More Common Clinical Genetic Tests

Fragile X syndrome
Leading cause of inherited mental retardation
gene: FMR1
locus: Xq27
product: Fragile X mental retardation 1 protein
# of labs performing test: 95

Factor V Leiden Thrombophilia
Most common genetic risk factor for venuous thrombosis.
gene: F5
locus: lq23
product: coagulation factor V
# of labs performing test: 86

Cystic fibrosis
Lung and pancreatic disease resulting in thick mucous accumulations and chronic infections
gene: ABCC7
locus: 7q31
product: Cystic fibrosis transmembrane conductance regulator
# of labs performing test: 60

Hereditary Hemochromatosis
Iron overload disorder
gene: HFE
locus: 6p21
product: Hereditary hemochromatosis protein
# of labs performing test: 54

Huntington disease
Progressive, lethal, degenerative neurological disease beginning in mid-life
gene: HD
locus: 4p16
product: Huntingtin
# of labs performing the test: 48

Duchenne muscular dystrophy
Severe/mild muscle wasting, deterioration, weakness
gene: DMD
locus: Xp21
product: Dystrophin
# of labs performing test: 35

Tay-Sachs disease
Fatal neurological disease of early childhood; seizures, paralysis
gene: HEXA
locus: 15q23-q24
product: Beta-hexosaminidase alpha chain
# of labs performing test: 35

BRCA1 Hereditary Breast Cancer
gene: BRCA1
locus: 17q21
product: Breast cancer type 1 susceptibility protein
# of labs performing test: 27

BRCA2 Hereditary Breast Cancer
gene: BRCA2
locus: 13q12
product: Breast cancer type 2 susceptibility protein
# of labs performing test: 25

Source: GeneTests